Variant report

Variant	nsv892312
Chromosome Location	chr9:10231178-10279606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
2	chr9:10045409..10046174-chr9:10268540..10269128,2	MCF-7	breast:
3	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
4	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
5	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
6	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:

Extended variants
information (count: 2298 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:2298 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10809041	chr9:10231178-10231179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185642106	chr9:10231241-10231242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532034617	chr9:10231255-10231256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552002402	chr9:10231290-10231291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189271024	chr9:10231295-10231296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10958964	chr9:10231300-10231301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147930916	chr9:10231321-10231322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566244772	chr9:10231330-10231331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75311795	chr9:10231337-10231338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202068177	chr9:10231347-10231348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558108085	chr9:10231362-10231363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192365929	chr9:10231377-10231378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543990296	chr9:10231390-10231391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534207141	chr9:10231391-10231392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554162405	chr9:10231413-10231414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571003927	chr9:10231415-10231416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539929402	chr9:10231430-10231431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556830718	chr9:10231474-10231475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12002573	chr9:10231484-10231485	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542030332	chr9:10231499-10231500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556041819	chr9:10231528-10231529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543568383	chr9:10231537-10231538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372288347	chr9:10231540-10231541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572612425	chr9:10231550-10231551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557112129	chr9:10231552-10231553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374583111	chr9:10231587-10231588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184869592	chr9:10231643-10231644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559716191	chr9:10231666-10231667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10958965	chr9:10231667-10231668	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs117281658	chr9:10231672-10231673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1322138	chr9:10231727-10231728	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531546252	chr9:10231734-10231735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77460484	chr9:10231744-10231745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528425000	chr9:10231772-10231773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568347188	chr9:10231807-10231808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527587804	chr9:10231815-10231816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547852082	chr9:10231825-10231826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570845200	chr9:10231890-10231891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189697645	chr9:10231928-10231929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74780768	chr9:10231932-10231933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372004255	chr9:10231956-10231957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112092902	chr9:10231957-10231958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538622760	chr9:10231980-10231981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56151511	chr9:10231983-10231984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199724010	chr9:10231985-10231986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556716251	chr9:10231986-10231987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140009977	chr9:10231987-10231988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1322139	chr9:10231989-10231990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368037963	chr9:10231991-10231992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570019840	chr9:10232000-10232001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10225800-10232800	Weak transcription	Fetal Heart	heart
2	chr9:10231400-10234200	Enhancers	Fetal Brain Male	brain
3	chr9:10231800-10234000	Enhancers	Fetal Brain Female	brain
4	chr9:10232000-10233400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:10232000-10233400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:10232200-10233200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:10232200-10233200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr9:10232400-10233400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:10232400-10233600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:10232400-10233600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:10232400-10234000	Enhancers	Brain Germinal Matrix	brain
12	chr9:10232600-10233000	Enhancers	Brain Hippocampus Middle	brain
13	chr9:10232600-10233200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:10232600-10233200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr9:10232600-10233400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:10232600-10233400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:10232800-10233200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:10232800-10233200	Enhancers	Fetal Heart	heart
19	chr9:10232800-10233400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:10233000-10233400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr9:10233000-10233400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr9:10233200-10238000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:10233400-10239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:10234000-10235400	Weak transcription	Fetal Brain Female	brain
25	chr9:10234200-10235200	Weak transcription	Fetal Brain Male	brain
26	chr9:10235200-10236400	Enhancers	Fetal Brain Male	brain
27	chr9:10235400-10236600	Enhancers	Fetal Brain Female	brain
28	chr9:10237600-10237800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:10237800-10242400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:10238000-10238200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:10239400-10239800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr9:10240200-10240400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:10240200-10240600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:10242000-10242200	Enhancers	Fetal Heart	heart
35	chr9:10242200-10244200	Weak transcription	Fetal Heart	heart
36	chr9:10242400-10243400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:10244200-10245000	Enhancers	Fetal Heart	heart
38	chr9:10247400-10248000	Enhancers	Fetal Lung	lung
39	chr9:10248000-10250200	Weak transcription	Fetal Lung	lung
40	chr9:10250200-10250600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:10250200-10250600	Enhancers	Fetal Lung	lung
42	chr9:10250400-10250600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:10250400-10252000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:10250600-10251200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:10250600-10251600	Weak transcription	Fetal Lung	lung
46	chr9:10251200-10251800	Enhancers	Fetal Heart	heart
47	chr9:10251200-10252400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:10251600-10251800	Enhancers	Fetal Lung	lung
49	chr9:10251600-10253000	Enhancers	Stomach Mucosa	stomach
50	chr9:10251800-10252200	Weak transcription	Fetal Lung	lung

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